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Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome

Joel Gibson, Rachel Fieldhouse,Melanie M. Y. Chan,Omid Sadeghi-Alavijeh,Leslie Burnett,Valerio Izzi,Anton V. Persikov,Daniel P. Gale,Helen Storey,Judy Savige

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY（2021）

Cited 106|Views23
Key words
Alport syndrome,thin basement membrane nephropathy,hematuria,collagen IV,genetic renal disease,glomerular basement membrane,Gly substitutions
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